Calcinosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (Human Disease Ontology, DOID_182)
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Genes

300 genes associated with the Calcinosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACTA1 actin, alpha 1, skeletal muscle
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADORA2A adenosine A2a receptor
ADORA2B adenosine A2b receptor
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AHSG alpha-2-HS-glycoprotein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALOX12 arachidonate 12-lipoxygenase
ALOX15 arachidonate 15-lipoxygenase
ALOX5 arachidonate 5-lipoxygenase
ALOX5AP arachidonate 5-lipoxygenase-activating protein
AMPD1 adenosine monophosphate deaminase 1
AMPD2 adenosine monophosphate deaminase 2
APCS amyloid P component, serum
APOA1 apolipoprotein A-I
APOA2 apolipoprotein A-II
APOA4 apolipoprotein A-IV
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC2 apolipoprotein C-II
APOC3 apolipoprotein C-III
APOE apolipoprotein E
ARMS2 age-related maculopathy susceptibility 2
ATG9B autophagy related 9B
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
C2 complement component 2
C3 complement component 3
C5 complement component 5
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CALU calumenin
CANT1 calcium activated nucleotidase 1
CAPN10 calpain 10
CAPN5 calpain 5
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CBS cystathionine-beta-synthase
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEL carboxyl ester lipase
CETP cholesteryl ester transfer protein, plasma
CFH complement factor H
CHUK conserved helix-loop-helix ubiquitous kinase
CIMT Carotid intimal medial thickness
CLEC16A C-type lectin domain family 16, member A
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CRP C-reactive protein, pentraxin-related
CTGF connective tissue growth factor
CTH cystathionine gamma-lyase
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTRC chymotrypsin C (caldecrin)
CTSB cathepsin B
CXCL8 chemokine (C-X-C motif) ligand 8
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DMPK dystrophia myotonica-protein kinase
EDN1 endothelin 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHX2 epoxide hydrolase 2, cytoplasmic
ERCC6 excision repair cross-complementation group 6
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FABP2 fatty acid binding protein 2, intestinal
FBLN5 fibulin 5
FEM1A fem-1 homolog a (C. elegans)
FEM1B fem-1 homolog b (C. elegans)
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FOXO1 forkhead box O1
FTO fat mass and obesity associated
GC group-specific component (vitamin D binding protein)
GCG glucagon
GCK glucokinase (hexokinase 4)
GNAS GNAS complex locus
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPR132 G protein-coupled receptor 132
GPR35 G protein-coupled receptor 35
GPX1 glutathione peroxidase 1
GRK4 G protein-coupled receptor kinase 4
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
HHEX hematopoietically expressed homeobox
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMCN1 hemicentin 1
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HNF4A hepatocyte nuclear factor 4, alpha
HRAS Harvey rat sarcoma viral oncogene homolog
HTRA1 HtrA serine peptidase 1
ICAM1 intercellular adhesion molecule 1
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGF2-AS IGF2 antisense RNA
IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL13 interleukin 13
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RN interleukin 1 receptor antagonist
IL32 interleukin 32
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
INSIG2 insulin induced gene 2
INSR insulin receptor
IRAK1 interleukin-1 receptor-associated kinase 1
IRAK2 interleukin-1 receptor-associated kinase 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNK1 potassium channel, two pore domain subfamily K, member 1
KCNK2 potassium channel, two pore domain subfamily K, member 2
KL klotho
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LIPC lipase, hepatic
LIPG lipase, endothelial
LMNA lamin A/C
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LRP5 low density lipoprotein receptor-related protein 5
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MASP2 mannan-binding lectin serine peptidase 2
MGP matrix Gla protein
MME membrane metallo-endopeptidase
MMP3 matrix metallopeptidase 3
MRAS muscle RAS oncogene homolog
MRPL10 mitochondrial ribosomal protein L10
MS4A2 membrane-spanning 4-domains, subfamily A, member 2
MSH3 mutS homolog 3
MSRB1 methionine sulfoxide reductase B1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYO7A myosin VIIA
NCF1 neutrophil cytosolic factor 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NUMB numb homolog (Drosophila)
OLFML2B olfactomedin-like 2B
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PAX6 paired box 6
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE4D phosphodiesterase 4D, cAMP-specific
PDYN prodynorphin
PHACTR1 phosphatase and actin regulator 1
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLAT plasminogen activator, tissue
PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
PLTP phospholipid transfer protein
PON1 paraoxonase 1
PON2 paraoxonase 2
PON3 paraoxonase 3
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit
PRSS1 protease, serine, 1 (trypsin 1)
PTGDR prostaglandin D2 receptor (DP)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN1 protein tyrosine phosphatase, non-receptor type 1
REG1A regenerating islet-derived 1 alpha
RETN resistin
RGS2 regulator of G-protein signaling 2
RGS9 regulator of G-protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RYR3 ryanodine receptor 3
S1PR1 sphingosine-1-phosphate receptor 1
S1PR2 sphingosine-1-phosphate receptor 2
SCAP SREBF chaperone
SCARB1 scavenger receptor class B, member 1
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SOCS1 suppressor of cytokine signaling 1
SOD2 superoxide dismutase 2, mitochondrial
SOD3 superoxide dismutase 3, extracellular
SORCS1 sortilin-related VPS10 domain containing receptor 1
SORT1 sortilin 1
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
SREBF1 sterol regulatory element binding transcription factor 1
SREBF2 sterol regulatory element binding transcription factor 2
TBC1D4 TBC1 domain family, member 4
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TCN2 transcobalamin II
THBD thrombomodulin
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TPO thyroid peroxidase
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VIMP VCP-interacting membrane selenoprotein
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
WRN Werner syndrome, RecQ helicase-like
WWOX WW domain containing oxidoreductase
WWTR1 WW domain containing transcription regulator 1